PINK1 Gene
protein-coding GIFtS: 66
GCID: GC01P020959
|
|
PTEN induced putative kinase 1(Previous name: Parkinson disease (autosomal recessive) 6 )
(Previous symbol: PARK6)
| |
Aliases
for PINK1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| PTEN Induced Putative Kinase 11 2 | | Parkinson Disease (Autosomal Recessive) 61 | | PARK61 2 5 | | Protein Kinase BRPK2 | | BRPK2 3 | | Serine/Threonine-Protein Kinase PINK1, Mitochondrial2 | | PTEN-Induced Putative Kinase Protein 12 3 | | EC 2.7.11.13 |
Export aliases for PINK1 gene to outside databasesPrevious GC identifers: GC01P020530 GC01P019995 GC01P020105 GC01P020429 GC01P020705 GC01P020832 GC01P019206 |
Summaries
for PINK1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PINK1:
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells fromstress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onsetParkinson disease. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylatingmitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). It isnecessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradation
Gene Wiki entry for PINK1
|
Genomic Views
for PINK1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004610.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PINK1 gene promoter:
NF-1/L NF-1 LHX3b/Lhx3b AP-1 SREBP-1c ATF-2 SREBP-1b SREBP-1a LHX3a/Lhx3a c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for PINK1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PINK1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36 Ensembl cytogenetic band: 1p36.12 HGNC cytogenetic band: 1p36.12PINK1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P020959: view genomic region
(about GC identifiers)
Start:
|
20,959,948 bp from pter |
End:
|
20,978,004 bp from pter |
Size:
|
18,057 bases |
Orientation:
|
plus strand |
|
Proteins
for PINK1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7 (See
protein sequence)Recommended Name: Serine/threonine-protein kinase PINK1, mitochondrial precursor Size: 581 amino acids; 62769 Da
Cofactor: Magnesium
Subunit: Interacts with PARK2
Subcellular location: Mitochondrion outer membrane; Single-pass membrane protein. Cytoplasm, cytosol
Secondary accessions: Q8N6T9 Q8NBU3 Q96DE4Alternative splicing: 2 isoforms: Q9BXM7-1 Q9BXM7-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PINK1: NX_Q9BXM7
Post-translational modifications:
Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PARK2 recruitment to depolarized mitochondria1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BXM7
PINK1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_115785.1
ENSEMBL proteins: ENSP00000364204
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
PINK1 for ontologies About GeneDecksing
PINK1 Antibody Products:
Assay Products for PINK1: |
Protein
Domains /
Families
for PINK1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PINK1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BXM7ProtoNet protein and cluster: Q9BXM7 UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase familySimilarity: Contains 1 protein kinase domain |
Function
for PINK1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylatingmitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). It isnecessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradationCatalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme Number (IUBMB): EC 2.7.11.11
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PINK1 (NM_003122) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PINK1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PINK1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1 |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
PINK1 for ontologies About GeneDecksing
6 GenomeRNAi human phenotypes for PINK1:
Animal Models:
Mouse knock-outs for PINK1: Pink1tm1Zhzh Pink1tm1Vbae Pink1tm1Hlw Pink1tm1Shn Pink1tm1.1Wrst Pink1tm1Hbu
Pink1tm1Ncw
9 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Pink1):
PINK1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for PINK1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Neuroscience | | | 2 | Parkinsons Disease Pathway | | | 3 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 4 | Ubiquitinated Orc1 is degraded by the proteasome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PINK1
1 
Cell Signaling Technology (CST) Pathway for PINK1
1  BioSystems Pathway for PINK1
1 
Kegg Pathway (Kegg details for PINK1):
PINK1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PINK1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 20)
5/22 Interacting proteins for PINK1 (Q9BXM71, 2, 3 ENSP000003642044) via UniProtKB, MINT, STRING, and/or I2D (see all 22)About this table
Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table
PINK1 for ontologies About GeneDecksing
|
Drugs & Compounds
for PINK1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PINK1 for compounds About GeneDecksing
 Browse Tocris compounds for PINK1
3 HMDB Compounds for PINK1 About this table
6 Novoseek chemical compound relationships for PINK1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| levodopa |
53.4 |
2 |
18307263 (1), 16179113 (1) |
| threonine |
49.5 |
18 |
19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 12) |
| dopamine |
41.2 |
7 |
19895857 (1), 17563363 (1), 19694908 (1), 17713119 (1) (see all 8) |
| serine |
35.8 |
17 |
19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 11) |
| atp |
17.2 |
6 |
19546216 (1), 16966503 (1), 19242547 (1) |
| methionine |
0 |
1 |
16179113 (1) |
Search CenterWatch for drugs/clinical trials and news about PINK1
|
Transcripts
for PINK1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PINK1 gene: NM_032409.2 Unigene Cluster for PINK1: PTEN induced putative kinase 1 Hs.389171 [show with all ESTs]Unigene Representative Sequence: AB0533233 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000321556(uc001bdm.3) ENST00000492302 ENST00000400490(uc001bdn.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PINK1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: PINK1 (NM_003122) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PINK1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PINK1 |
Additional cDNA sequence: AB053323.1 AF316873.1 BC009534.1 BC028215.1 16 DOTS entries: DT.95148807 DT.99990789 DT.445984 DT.100824921 DT.100801355 DT.100824919 DT.95226113 DT.100824908 DT.100824911 DT.100824917 DT.40191712 DT.86836539 DT.95148814 DT.95148815 DT.80100175 DT.86853366 24/368 AceView cDNA sequences (see all 368): AI536608 AA879128 AW163235 CD679228 CB122562 BE615427 AI424391 BF448942 CB153545 CB215266 BE531293 CD556731 AW167936 CR601045 CF131513 AA551902 Z28931 BF196557 BQ672284 BG055986 BQ888270 BU751789 BM352779 AL042585
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for PINK1 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
|---|
|
| SP1: | | | | | - | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for PINK1
|
Expression
for PINK1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PINK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGCCTGGGC
About this image
See PINK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PINK1
SOURCE GeneReport for Unigene cluster: Hs.389171
UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7Tissue specificity: Highly expressed in heart, skeletal muscle and testis, and at lower levels in brain, placenta,liver, kidney, pancreas, prostate, ovary and small intestine. Present in the embryonic testis from an early stage ofdevelopment
SABiosciences Expression via Pathway-Focused PCR Arrays including PINK1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PINK1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PINK1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PINK1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PINK1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1 |
Orthologs
for PINK1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for PINK1 gene from 5/18 species (see all 18) About this table
ENSEMBL Gene Tree for PINK1 (if available)
TreeFam Gene Tree for PINK1 (if available) |
Paralogs
for PINK1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for PINK1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
|
|
|
